@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_head
{
this:
np:hasAssertion
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_assertion
;
np:hasProvenance
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_assertion
a
np:Assertion
.
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_provenance
a
np:Provenance
.
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN3183d48b4fe658d89412ad0d9fde66a5
sio:SIO_000628
miriam-gene:57216
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_provenance
{
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_assertion
dcterms:description
"[Examples of these include the corneal dystrophies, rare forms of strabismus now designated as the cranial dysinnervation disorders, ocular malformations that result from mutations in transcription factors, cataracts that result from mutations in crystallins and other structural lens components, and finally retinal dystrophies that result from defects in phototransduction or visual cycle defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:20090202
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP722357.RAs-jHx4i5KD6Qm9zkbAb5n00CnBGMifqZq_HzRJQ0TvQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:18+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}